Hypospadias and Epispadias Association, Inc

Category Archives: Related Conditions

Chordee is a curvature of the phallus: instead of the penis being straight when erect, it curves. The curvature can be from mild to severe, sometimes being acceptable to the individual, sometimes precluding intercourse or making erection or sex painful. This can happen as a result of scarring inside the penis from injury or infection or scarring as a result of previous genital surgery, or from cells that bunch up in one section of the penis as a result of a disorder of sex development. Chordee can occur along with hypospadias or epispadias, and it can be repaired surgically.

Bladder and kidney stones happen as a result of proteins, calcium, and/or urea concentrating in higher levels than normal in the blood and creating stones when filtered through the kidney, sometimes making it into the bladder. These can be very painful as they “pass” though the kidney into the ureters and lodge in the bladder or get passed out of the body through the urethra on urination. Larger stones can lodge in the kidney and require a doctor’s attention to be removed.

A fistula (plural: fistulas or fistulae) is an abnormal passage or opening between body organs or between the body and the outside. In terms of hypospadias or epispadias, it is an opening through which urine flows out at a location other than the urinary meatus (the hole where the urethra opens). Fistulas can appear anywhere along the shaft of the penis, on the lower abdominal wall, or even on the perineum behind the testicles. Fistulas can occur soon after surgery when a wound isn’t completely healed, and these can sometimes heal on their own. Alternatively, they can sometimes occur long after surgery. Persistent fistula usually results from a previous surgical wound breaking down under the force of urine wearing away at the tissue until a channel works its way to the outside of the skin and creates a leak. Besides making urination messy, these leaks also increase the possibility of infection. Some fistulas can remain for years without major complications but may eventually require surgical repair. If the leak is inside the penis and breaks into the spongy bodies involved in erection, that kind of leak is called “extravasation” and is very painful, requiring immediate medical attention.

A stricture happens when a channel in the body narrows, usually as a result of injury, infection, or previous surgery. When a stricture occurs in the urethra, urination is less comfortable and can be difficult, and the chance of infection increases. Urethral strictures can sometimes be treated just with a dilation, which is a stretching done in a doctor’s office with the urethra under local anesthesia or in an operating room with the patient under general anesthesia. Occasionally, however, urethral strictures may require surgery.

Urinary tract infection (UTI) happens when microorganisms cause an infection in the urethra, the bladder, or the kidneys. There may be a discharge (clear or pus), pain on urination, painful spasm of the bladder, or back pain and high fever if the infection makes it into the kidneys. These all require a doctor’s attention sooner rather than later. Urinary tract infections are typically treated with antibiotics.

During fetal development in boys, the testicles (testes) form in the abdomen and migrate into the scrotum (the sac of skin below the penis). Undescended testicles happen when the testicles do not descend all the way to the scrotum before birth. This condition is also called cryptorchidism. Sometimes undescended testes do not migrate at all; other times, they stop somewhere along the way in the inguinal canals. Sometimes one testicle descends normally but the other does not. In boys who are born with normally descended testicles, one or both testicles may retract into the groin before adolescence; this is called acquired cryptorchidism or ascending testicles.

In order to produce sperm, testes need to be in the scrotum, which keeps them cooler than normal body temperature. Testes that are undescended at birth sometimes descend into the scrotum during early infancy. If the testes are left undescended for too long, they can be harmed by getting overheated, and they may not produce sperm normally or at all. In such cases, surgery is done to move the undescended testes to the scrotum.

Recent publications claim there may be 60 different syndromes that can lead to a disorder of sex development (DSD). Congenital adrenal hyperplasia (CAH), partial androgen insensitivity syndrome, hypospadias, epispadias, bladder and cloacal exstrophy, Klinefelter syndrome, enzyme insufficiencies like 5-alpha reductase or 17-beta ketosteroid, and MRKH, CHARGE, and other syndromes all may have ambiguous genitalia as part of their presentation.

Ambiguous genitalia are genitals that do not look clearly male or clearly female. Instead, they may appear to have characteristics of both female and male genitalia or may be developed incompletely at birth. This is what is often referred to when the term “intersex” or DSD (disorder of sex development) is used. A baby with XX (female-pattern) chromosomes may be born with what looks like a complete penis but an empty scrotum. This is the extreme presentation of congenital adrenal hyperplasia (CAH). A baby with XY (male-pattern) chromosomes may be born with what looks like normal female genitals but a shallow or “blind” vagina that does not lead to a uterus. This is the presentation of complete androgen insensitivity syndrome. Another form of androgen insensitivity syndrome called partial androgen insensitivity syndrome can have an array of genital differences, all along the spectrum between male and female. Incomplete CAH can lead to a variety of partially masculinized genitals, also all along the spectrum.

Some boys with hypospadias have ambiguous genitalia, especially when the hypospadias is severe and the testes are undescended. However, most baby boys with hypospadias do not have any genital ambiguity.

Most resources conflate atypical and ambiguous genitalia. Atypical genitalia are probably best described as genitals that are different from what is normally expected at birth, but they may be unambiguously male or female in appearance. Examples include labial hypertrophy or “winged labia”; a hydrocele (a fluid-filled sac in the scrotum) that appears at first glance like a third testis; and an extended foreskin that appears “droopy,” covers the penis, and extends well beyond the penis when it is flaccid. Genitals may also be absent, but this is very rare.